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Introduction:Cancer predisposition syndromes are germline pathogenic variants in genes that greatly raise the risk of developing neoplastic diseases. One of the most well-known is Li-Fraumeni syndrome (LFS), which is due to pathogenic variants in the TP53 gene. Children with LFS have higher risks for multiple malignancies before adulthood, often with rare and aggressive subtypes.Objective:To examine head and neck manifestations of LFS in children treated at a tertiary children’s hospital over a 20-year period.Methods:A retrospective review of LFS children with neoplastic disease presenting in traditional Otolaryngologic head and neck subsites from 2000 to 2019, with patient charts reviewed for relevant clinical, imaging, and operative data.Results:Of the 40 LFS patients initially identified, 27 neoplastic tumors were identified in 20 children within this cohort (20 primary, 7 second primary). Head and neck subsites aside from the brain or orbit were involved in 22% (6/27) of these tumors, representing 20% (4/20) of primary tumors and 29% (2/7) of second primary tumors. Both second primaries within the head and neck were within the radiation fields of the first primary tumor. The mean ages at primary and second primary diagnosis were 4.6 years (SD 3.5) and 12 years (SD 1.4), respectively. The male/female ratio was 1:6 among all patients with head and neck tumors. All 6 head and neck tumors were sarcomas. Rhabdomyosarcoma ( N = 3, 50%) was the most common pathology, and the other 3 demonstrated rare tumor pathological subtypes (synovial cell sarcoma, pleomorphic myxoid liposarcoma, mandibular osteosarcoma). The neck was the most common subsite (75%) within this group for primary tumor presentation.Conclusion:This study identifies a high potential for head and neck involvement in children with LFS, which has not been previously described in the literature. Otolaryngological care should be included in a multidisciplinary care team surveilling these patients.

Objective To compare rates of successful tympanic membrane (TM) closure in primary pediatric tympanoplasty between various autologous and non-autologous tissues. Methods A retrospective chart review was performed examining all primary pediatric tympanoplasties over a 20-year period at a single institution. Results In 564 pediatric tympanoplasties, no statistically significant difference existed between success rates of autologous and non-autologous grafts (p = 0.083). Compared with fascia, the hazard ratios (and 95% confidence intervals [CI]) for failure for each graft were as follows: human pericardial collagen (HR 0.90, CI 0.54-1.50, p = 0.680), porcine submucosal collagen (HR 1.07, CI 0.56-2.05, p = 0.830), human acellular dermal collagen (HR 1.66, CI 0.95-2.87, p = 0.073), and "multiple grafts" (HR 0.72, CI 0.26-1.98, p = 0.520). Survival curves demonstrated that 75% of graft failures occurred by 6 months after surgery, the rest occurring between 6 and 12 months postoperatively. Larger perforations encompassing more than or equal to 50% of the TM had lower success rates (HR 1.50, CI 1.02-2.21, p = 0.041) than smaller perforations encompassing less than 50% of the TM. Age was not correlated with success (HR 0.98, CI 0.93-1.03, p = 0.390). Conclusion This study found that non-autologous collagen grafts provide equivalent rates of healing when compared with autologous tissue in primary pediatric tympanoplasty. In addition to the potential for reduced operative time and donor site morbidity, these materials provide a viable graft alternative in fascia-depleted ears.Level of Evidence: Level 4.

Background: Rosai-Dorfman-Destombes disease (RDD), or sinus histiocytosis with massive lymphadenopathy, is a rare form of non-Langerhans cells histiocytosis. It has a wide-ranging variability in presentation since first described in 1969 but much of its characteristics in children remain unknown. Methods: A retrospective chart review of children diagnosed with RDD at a tertiary care children’s hospital was conducted from 2000 to 2021. Results: Twelve RDD patients were identified, with an average age of 7 years (SD 4.3). Males comprised 58% of the cohort, and African American ethnicity was most common (42%). Nodal RDD was found in 7 patients (58%). Nine patients (75%) presented RDD within the head and neck, 6 of whom had nodal RDD. The most common presentation was cervical lymphadenopathy, which most often involved levels V (67%), II (56%), III (44%), and I (11%), in order of frequency. Recurrence and persistence of disease after initial treatment was common, with 5 (42%) being disease free at the time of the last follow up. Fifty-eight percent (7/12) developed recurrence or had persistent disease and 4 required adjuvant systemic treatment with corticosteroids and/or chemotherapy. One patient succumbed after developing treatment related acute myelodysplastic leukemia (t-AML) from chemotherapy used to treat recurrent RDD. Conclusion: Pediatric RDD presents at a young age and most commonly involving cervical lymphadenopathy. Ongoing surveillance in the setting of persistence or recurrence without clearly defined prognostic risk factors is important.

To reanalyze the growth trajectory and assess longitudinal changes of children undergoing adenotonsillectomy (AT) versus watchful waiting (WW) enrolled in the Childhood Adenotonsillectomy Trial (CHAT) study and to determine if an AT increases the risk of obesity in children.Reanalysis of prospective cohort investigation.The study analyzed publicly available data from CHAT, including 3 months visit data not previously included in a prior publication. Statistical comparisons and mixed-effects modeling were done using age- and sex-specific BMI expressed as a percentage of the 95th percentile (%BMIp95). P .05 was considered significant.Children in the AT group, especially if underweight at baseline, had an increased rate of weight gain, with 100% of underweight children in the AT group becoming normal weight compared to 20% for WW. However, the rate of weight gain, as measured by the %BMIp95 trajectory for both AT and WW groups, was not significantly different when baseline weight status and obstructive sleep apnea (OSA) resolution were accounted for. Comparisons of %BMIp95 between treatment groups at baseline, 3- and 7-month follow-up visits also failed to identify statistically significant differences (P .05). Overall for the entire cohort, resolution of OSA was associated with a decreased weight trajectory (P .001).AT compared to WW is not associated with an increased risk of excessive weight gain. Otolaryngologists should be aware of this updated analysis when discussing AT surgical outcomes with families.2 Laryngoscope, 132:1289-1294, 2022.

Introduction Pediatric cystic sublingual masses often present a diagnostic dilemma for practitioners. Though uncommon, dermoid or epidermoid cysts can present in the sublingual space at any age and are often misdiagnosed as an inflammatory pseudocyst (ranula) or lymphatic malformation. Imaging may not always identify the underlying etiology, requiring physicians to maintain a high index of suspicion for these relatively rare oral cysts. Objectives To describe the presentation and treatment of sublingual dermoid and epidermoid cysts presenting to a tertiary children's hospital over 20 years. Methods A retrospective review of all pathology specimens identified as dermoid or epidermoid cysts within the sublingual space from 1999 to 2019. Patient charts were then reviewed for relevant clinical, imaging, and operative data. Results Twelve pediatric patients were identified (8 female, 4 male) with a mean age of 7.2 years (SD 5.6). Eighty six percent (6/7) of dermoid cysts were found in female patients, while 60% (3/5) of epidermoid cysts were in male patients. Multiple dermoid and epidermoid cysts were each found in one patient (8%). Two epidermoid cysts presented in the neonatal period. Preoperative diagnosis included nondiagnostic “cystic mass” (33%), ranula (25%), lymphatic malformation (LM) (17%), and dermoid/epidermoid cyst (17%). Two thirds of patients (8/12) underwent imaging, with all receiving either MRI or CT. Although MRI was the most likely to suggest the possibility of a dermoid/epidermoid cyst (2/4), ranula was the most common primary radiographic diagnosis (5/8). One patient underwent sclerotherapy for presumed LM one year prior to surgical excision of the cyst. Eleven patients (92%) underwent intraoral excision, one (8.3%) underwent a combined intraoral/extraoral approach. Conclusions To our knowledge, this review represents the largest case series of pediatric sublingual dermoid and epidermoid cysts to date. This series contained higher levels of epidermoid cysts and female patients than previously reported in the literature. Identifying more dermoid cysts in females and epidermoid cysts in males is also a new finding. MRI was superior to CT and US regarding the presence of a dermoid/epidermoid cyst. Frequently misdiagnosed, it is important to consider these relatively rare pathologies when treating children presenting with sublingual masses in order to avoid delayed and/or inappropriate treatment.

Objective: To identify and characterize hearing loss (HL) in children with septo-optic dysplasia (SOD). Methods: Otologic and audiometric data for patients less than 18 years of age identified as having SOD who were seen in the Children’s Healthcare of Atlanta-Scottish Rite Hospital clinic between 2013 and 2017 were collected and reviewed through a HIPAA-compliant medical record search. Relevant literature was also reviewed with the assistance of Medline. Results: Sixty-four patients with SOD were identified, and 7 of those patients (10.9%) were diagnosed with hearing loss. Type of hearing loss was sensorineural (SNHL) in 5 patients (63%), mixed (MHL) in 1(14%), and conductive (CHL) in 1(14%). Bilateral loss presented in 60% (3/5) of SNHL patients, while the rest demonstrated unilateral loss. Unilateral findings included cochlear nerve deficiency (1) and atresia/microtia (1). Tympanostomy tubes were required in 57% (4/7) of SOD children with hearing loss. Amplification was successfully implemented in 86% (6/7). Conclusions: Hearing loss was found in nearly 11% of SOD children, and SNHL was identified as (63%) the predominant form of loss. To our knowledge, this is the first retrospective review of hearing loss in a pediatric SOD cohort and the first to report of cochlear nerve deficiency and atresia/microtia in this population. Based on these findings, early identification of hearing loss with imaging when appropriate and treatment of otitis in this population is recommended.

Introduction Pleomorphic myxoid liposarcoma is a rare and aggressive cancer seen in the pediatric population that has been previously associated with hereditable cancer disorders like Li Fraumeni syndrome. We present a case report and review of the relevant literature. Case presentation Pleomorphic myxoid liposarcoma presenting as a second primary tumor in a child with a strong family history for cancer led to diagnosis of Li-Fraumeni syndrome, which is associated with TP53 tumor suppressor gene inactivation. Management and outcome The tumor was fully excised, but postoperative radiation was deferred to limit future radiation-induced tumorgenesis. Discussion Pleomorphic myxoid liposarcoma is rare but aggressive, and should prompt caregivers to test for potential hereditable cancer disorders. Li-Fraumeni syndrome is associated with early onset neoplasia and development of recurrent primary tumors. Its presence affects treatment decisions and methods of surveillance. Chemoradiation should be used judiciously in this population.

Objective To evaluate sinonasal manifestations of posttransplant lymphoproliferative disorder (PTLD) in the pediatric lung transplant population. Study design and methods Case series of children less than 18 years presenting with PTLD after pulmonary transplantation at St Louis Children’s Hospital between Jan 1, 1990 and Dec 31, 2003. Results Two hundred eighty-two lung transplants were performed in 246 children. Thirty-two cases of histopathologically confirmed PTLD were identified with 8 (25%) presenting in the head and neck. Sinonasal PTLD was the most common site of head and neck involvement (63%), with 40% of patients presenting with occult disease. All patients with sinonasal PTLD had longstanding nasal polyposis related to cystic fibrosis ( P = 0.07). Conclusions This is, to our knowledge, the first report identifying an increased frequency of sinonasal PTLD after pediatric pulmonary transplantation, particularly in children with cystic fibrosis and associated nasal polyposis. Because sinonasal PTLD may be asymptomatic, this region should receive close scrutiny on surveillance evaluations.

Summary Objective: To understand the clinical presentation and management of salivary gland anlage tumor (SGAT). Design and methods: This case series includes a report of a newborn male who presented with acute airway obstruction secondary to a nasopharyngeal mass which was discovered in the course of the clinical evaluation. Six additional cases of SGAT from the pathology consultation files of one of the authors (LPD) presenting in similar fashion are also included. The relevant literature from 1966 to the present has been reviewed through a Medline keyword search utilizing terms “salivary gland anlage tumor”, “neonatal”, and “nasopharynx.” Results: Endoscopic evaluation identified a nasopharyngeal mass tethered to the posterior septum. Although CT and MRI were helpful in identifying the mass and excluding involvement of the surrounding structures, the imaging characteristics of the mass itself were nonspecific. The patient was taken to the operating room and the polypoid mass was removed transorally after lysis of its septal attachment. Pathologic examination revealed a SGAT, a recently described entity in neonates and young infants, who present with early onset respiratory distress. Since the initial report of nine cases by one of the co-authors (LPD), seven additional cases including the present one have been seen in consultation. Conclusions: Salivary gland anlage tumor of the nasopharynx is a rare cause of neonatal airway obstruction. Endoscopic evaluation and imaging studies are helpful in the exclusion of other etiologies, some of which may have intracranial extension. Simple excision has been curative to date. There have been no reported recurrences in any of the previously studied cases with clinical follow-up dating more than 5 years.

Lipofibromatosis is a recently described, benign neoplasm that presents in the pediatric population [J.F. Fetsch, M. Miettinen, W.B. Laskin, M. Michal, F.M. Enzinger, A clinicopathologic study of 45 pediatric soft tissue tumors with an admixture of adipose tissue and fibroblastic elements, and a proposal for classification as lipofibromatosis, Am. J. Surg. Pathol. 24 (2000) 1491-1500]. It is a rare soft tissue tumor histologically distinct from other fibromatoses such as juvenile fibromatosis, fibrous hamartoma of infancy, calcifying aponeurotic fibroma, and lipoblastoma. Distinguishing histopathologic features of lipofibromatosis include abundant and disorganized adipose lobules traversed by bundles of spindled fibroblast-like cells. It most commonly presents in the extremities. We present a case involving a young girl, which we believe represents the first report of lipofibromatosis involving the neck.

Introduction Traditional frontal sinus stents serve only as mechanical devices. It has been proposed that stents also may serve as drug-delivery systems for the topical application of drugs that minimize postoperative scarring. Paclitaxel (Taxol), which has recognized antiscarring effects, may be incorporated via a polymeric formulation into standard rubber stents. The impact of topically applied paclitaxel on the morphology of the nasal mucosa is unknown. Methods An adult sheep model was used for this study. A modified rubber T-tube stent (incorporating paclitaxel at varying dosages) was secured to each side of the septum in four animals (eight sides). An unmodified T-tube was placed on each side of one animal, a T-tube with the drug carrier (but no paclitaxel) was placed on each side of the second animal, and T-tubes with varying paclitaxel were placed on each side of the final two animals. After 4 weeks, animals were killed and the nasal mucosa was harvested. The nasal mucosa was sectioned and stained with hematoxylin and eosin. A pathologist then assessed the nasal mucosa for vascular congestion, glandular atrophy, chronic inflammation, mucosal metaplasia, and mucosal ulceration. Results No consistent histopathological differences were noted in the specimens. All specimens showed varying degrees of vascular congestion, glandular atrophy, chronic inflammation, and mucosal metaplasia; the paclitaxel-impregnated stents were not consistently associated with more severe mucosal injury. Finally, mucosal ulceration was noted to be very rare in all specimens. Conclusion This preliminary report describes the impact of paclitaxel-impregnated stents on sheep nasal mucosa, which tolerated these stents very well. Because paclitaxel minimizes scarring reactions at very low concentrations, paclitaxel-impregnated stents may prove useful in clinical situations in which frontal sinus stenting is deemed necessary. Additional investigations with animal models, as well as clinical trials, may be warranted.

Objective: To understand the clinical presentation, management, and natural history of paranasal rhabdomyosarcoma. Design: Retrospective case series review. Methods: Retrospective medical record review of patients less than 20 years of age who presented to our facility with rhabdomyosarcoma of the nasal cavity or paranasal sinuses. Results: Medical records of all pediatric patients seen in our pediatric otolaryngology clinic were reviewed from January 1, 1995, through December 31, 2000. Three patients were identified with sinonasal rhabdomyosarcoma. Their presentation, evaluation, and treatment were evaluated. Relevant literature 1966 to the present was reviewed with the assistance of Medline. Conclusions: Rhabdomyosarcoma is an aggressive pediatric malignancy, requiring a high index of suspicion to detect it in its earliest stages. Patients with suggestive symptoms should undergo a full evaluation including nasal endoscopy and imaging. Because the current chemotherapy protocols are more effective on localized disease, early diagnosis is crucial to patient survival.

Background. Nitric oxide (NO . ) is an inhibitory neurotransmitter that induces sphincter of Oddi relaxation. Superoxide (O 2 .- )-scavenging enzymes are present in enteric plexuses of the sphincter of Oddi and O 2 .- alters sphincter of Oddi motor function. O 2 .- rapidly oxidizes nitric oxide (NO . ) to form peroxynitrite (ONOO - ), thus terminating the biological activity of NO . . The aim of our study was to determine the effects of ONOO - on sphincter of Oddi motility in vitro. Materials and methods. Adult opossums were sacrificed and the sphincter of Oddi was removed and placed in a tissue bath containing oxygenated Krebs solution at 37°C. In the first series of experiments, force transducers recorded tension in a transverse orientation at two sites along the spontaneously contracting sphincter of Oddi. In a second series of experiments, circular muscle strips were precontracted with carbachol and stimulated by an electrical field. Results. ONOO - , superoxide dismutase (SOD), N ω -nitro-L-arginine (L-NNA), or oxyhemoglobin were added to the tissue baths. ONOO - decreased the frequency of contractions in the spontaneously contracting sphincter of Oddi. Adding hemoglobin increased the frequency of contractions. ONOO - also increased the stimulation-induced relaxation compared to controls. The increase in relaxation induced by ONOO - was inhibited by oxyhemoglobin and L-NNA but not SOD. Pretreatment with oxyhemoglobin prevented the increase in the stimulation-induced relaxation caused by ONOO - . Conclusion. These results suggest that hemoglobin binds ONOO - or that ONOO - generates NO.

BackgroundThe aim of this study was to review the presentation and management of children admitted for intracranial complications arising from frontal rhinosinusitis. We performed a retrospective case series review at two academic tertiary care children's hospitals.MethodsThis study consisted of children ResultsSixteen patients were identified with intracranial complications due to frontal rhinosinusitis. Patients were usually older (mean age, 14 years and 3 months), of male gender (M/F, 4.3:1.0), and African American (AA/W, 3.0:1.0). Headache, nasal congestion, and visual changes were the most common early symptoms and neurological findings indicated advanced disease. Subdural (56%), epidural (44%), and cerebral abscesses (19%) were the most common complications. Meningitis alone was identified in 13% and was associated with another intracranial complication in 6%. Multiple intracranial complications were noted in 31%. Polymicrobial cultures were obtained in 50% of patients. Although CT was excellent in identifying orbital pathology, MRI was superior for characterization of intracranial disease.ConclusionIntracranial complications of frontal rhinosinusitis are rare in children. Early symptoms often are nonspecific, with neurological findings more commonly seen in advanced disease. Adolescent African American male patients were found to be at highest risk for intracranial complications from frontal rhinosinusitis. Headache and orbital complaints associated with rhinosinusitis in older children failing to respond to initial therapy should prompt an aggressive evaluation including MRI.

Summary Objective To identify the otolaryngological manifestations of posttransplant lymphoproliferative disorder (PTLD) in pediatric heart and lung transplant recipients. Methods A 14-year retrospective case series review (1990–2003) of children less than 18 years of age presenting with PTLD after receiving orthotopic heart and lung transplants at St. Louis Children's hospital (St. Louis, MO, USA). Results One hundred ninety seven cardiac and 246 pulmonary transplant patients were included in this review. Thirteen heart transplant patients developed PTLD with 39% (5/13) presenting in the head and neck. Thirty-two lung transplant patients developed PTLD with 25% (8/32) presenting in the head and neck. PTLD in cardiac transplants most often presented as adenotonsillar hypertrophy or cervical lymphadenopathy. The sinonasal cavity was the most common site of head and neck PTLD in pulmonary transplants patients. Conclusions This study suggests that head and neck involvement is more common than currently reported in the literature. As thoracic organ transplants become more frequent in children, otolaryngologists caring for this population should maintain a high index of suspicion for any suggestive findings. Evaluation must include tissue biopsy, as histopathologic examination is required for diagnosis.

Traditional frontal sinus stents serve only as mechanical devices. It has been proposed that stents also may serve as drug-delivery systems for the topical application of drugs that minimize postoperative scarring. Paclitaxel (Taxol), which has recognized antiscarring effects, may be incorporated via a polymeric formulation into standard rubber stents. The impact of topically applied paclitaxel on the morphology of the nasal mucosa is unknown.An adult sheep model was used for this study. A modified rubber T-tube stent (incorporating paclitaxel at varying dosages) was secured to each side of the septum in four animals (eight sides). An unmodified T-tube was placed on each side of one animal, a T-tube with the drug carrier (but no paclitaxel) was placed on each side of the second animal, and T-tubes with varying paclitaxel were placed on each side of the final two animals. After 4 weeks, animals were killed and the nasal mucosa was harvested. The nasal mucosa was sectioned and stained with hematoxylin and eosin. A pathologist then assessed the nasal mucosa for vascular congestion, glandular atrophy, chronic inflammation, mucosal metaplasia, and mucosal ulceration.No consistent histopathological differences were noted in the specimens. All specimens showed varying degrees of vascular congestion, glandular atrophy, chronic inflammation, and mucosal metaplasia; the paclitaxel-impregnated stents were not consistently associated with more severe mucosal injury. Finally, mucosal ulceration was noted to be very rare in all specimens.This preliminary report describes the impact of paclitaxel-impregnated stents on sheep nasal mucosa, which tolerated these stents very well. Because paclitaxel minimizes scarring reactions at very low concentrations, paclitaxel-impregnated stents may prove useful in clinical situations in which frontal sinus stenting is deemed necessary. Additional investigations with animal models, as well as clinical trials, may be warranted.

To compare the surgical and audiologic success rates of areolar connective tissue with temporalis fascia in pediatric tympanoplasty.Retrospective case series review of 10 patients younger than 18 years who underwent primary tympanoplasty between December 1997 and December 2000 using areolar connective tissue grafts. Tympanoplasty patients receiving temporalis fascia grafts during this period were used as a control group. Surgical and audiometric results were gathered after a minimum follow-up of 1 year.Both groups were similar in their clinical characteristics (P.05). The surgical success rates for areolar and temporalis fascial groups were 90% and 91%, respectively. Closure of the air bone gap to within 25 dB was achieved in 90% and 91% of the areolar and temporalis fascial groups, respectively.This study showed equivalent surgical and audiometric success rates between areolar connective tissue and temporalis fascia. Both are excellent sources of graft material in pediatric patients.